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What is PKU?

Submitted by tlee on Tue, 08/04/2009 - 15:17

According to wikipedia, "Phenylketonuria (PKU) is an autosomal recessive genetic disorder characterized by a deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH).[1]:541 This enzyme is necessary to metabolize the amino acid phenylalanine ('Phe') to the amino acid tyrosine. When PAH is deficient, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine."

"Since its discovery there have been many advances in its treatment. It can now be managed by the patient with little or no side effects, just inconvenience with managing the treatment. If however the condition was left untreated, it can cause problems with brain development, leading to progressive mental retardation, brain damage, and seizures. Historically, PKU has been treated with a low-phenylalanine diet. Research now has proved that diet alone may not be enough to prevent the negative effects of phenylalanine levels. Optimal treatment involves lowering blood Phe levels to a safe range and monitoring diet and cognitive development. Lowering of phenylalanine levels to a safe range may be achieved by combining a low phenylalanine-diet with protein supplements. There is currently no cure for this disease, although some treatments are available with varying success rates. PKU is generally detected through newborn screening and diagnosed by a geneticist. PKU clinics around the world provide integrative care for PKU patients to optimize phe levels, dietary intake and cognitive outcomes."

You can also find more information about PKU at www.pkunews.org that is maintained by Virginia Schuett.